Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report. [electronic resource]
Producer: 20170926Description: 105 p. digitalISSN:- 1471-2350
- Cardiac Myosins -- genetics
- Distal Myopathies -- diagnostic imaging
- Genetic Predisposition to Disease
- Genetic Variation
- Humans
- Male
- Middle Aged
- Muscle, Skeletal -- pathology
- Muscular Diseases -- congenital
- Mutation
- Myopathies, Structural, Congenital -- diagnostic imaging
- Myosin Heavy Chains -- genetics
- Ophthalmoplegia -- diagnostic imaging
- Phenotype
- Ryanodine Receptor Calcium Release Channel -- deficiency
- Muscular Dystrophy, Emery-Dreifuss
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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